Variant information


Systematic Name c.753delC
Protein name p.Gly252fs
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1111 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
2 c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1252 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485
3 c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 1560 :::
4 c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 1668 :Friez, Michael::
5 c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 1815 :Friez, Michael::
6 c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2094 :Cardiff, UK::